Incidental Mutation 'R1236:Kbtbd7'
ID 152443
Institutional Source Beutler Lab
Gene Symbol Kbtbd7
Ensembl Gene ENSMUSG00000043881
Gene Name kelch repeat and BTB (POZ) domain containing 7
Synonyms 1110008P08Rik, LOC211255
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R1236 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 79663951-79668476 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 79665272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 368 (C368F)
Ref Sequence ENSEMBL: ENSMUSP00000060768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022600] [ENSMUST00000061222]
AlphaFold G5E8C2
Predicted Effect probably benign
Transcript: ENSMUST00000022600
SMART Domains Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022

DomainStartEndE-ValueType
low complexity region 104 119 N/A INTRINSIC
low complexity region 122 133 N/A INTRINSIC
PCRF 139 255 5.96e-27 SMART
Pfam:RF-1 290 400 2.6e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061222
AA Change: C368F

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000060768
Gene: ENSMUSG00000043881
AA Change: C368F

DomainStartEndE-ValueType
Blast:BTB 11 44 2e-11 BLAST
BTB 63 168 1.05e-23 SMART
BACK 173 279 1.41e-19 SMART
low complexity region 317 340 N/A INTRINSIC
Pfam:Kelch_1 434 481 1.7e-9 PFAM
low complexity region 657 676 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T C 2: 30,685,756 (GRCm39) Y360C probably damaging Het
Afap1l2 T A 19: 56,904,904 (GRCm39) H566L possibly damaging Het
Aqr G T 2: 113,947,136 (GRCm39) F1015L probably damaging Het
Cep112 T A 11: 108,750,200 (GRCm39) L901H probably damaging Het
Col26a1 A G 5: 136,783,780 (GRCm39) V229A probably benign Het
Cyp4a14 T C 4: 115,349,367 (GRCm39) N231S probably benign Het
Dmac2l T C 12: 69,788,592 (GRCm39) probably null Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gm37240 T A 3: 84,435,003 (GRCm39) N13I probably benign Het
Kyat3 A G 3: 142,444,020 (GRCm39) D418G probably benign Het
Lpcat2 A G 8: 93,613,197 (GRCm39) M246V probably damaging Het
Nbas T A 12: 13,319,242 (GRCm39) W31R probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Npepl1 T A 2: 173,956,273 (GRCm39) probably null Het
Or6c212 A G 10: 129,558,675 (GRCm39) V246A probably damaging Het
Or8b1 T C 9: 38,399,525 (GRCm39) S67P probably damaging Het
P4ha3 T C 7: 99,943,056 (GRCm39) L147P probably damaging Het
Pkp2 C A 16: 16,043,766 (GRCm39) H173Q probably benign Het
Prlr C A 15: 10,325,367 (GRCm39) T180K probably benign Het
Psph A G 5: 129,848,540 (GRCm39) M47T probably damaging Het
Rufy2 A G 10: 62,830,549 (GRCm39) N217S probably benign Het
Sgcg T C 14: 61,483,219 (GRCm39) M61V probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spint1 A G 2: 119,076,054 (GRCm39) T217A probably benign Het
Tert T C 13: 73,784,498 (GRCm39) L648P probably damaging Het
Vwde A T 6: 13,187,152 (GRCm39) Y778* probably null Het
Zeb2 T A 2: 44,884,658 (GRCm39) D967V probably damaging Het
Zfp687 T C 3: 94,919,355 (GRCm39) N139S probably benign Het
Zscan26 T C 13: 21,629,940 (GRCm39) M188V probably benign Het
Other mutations in Kbtbd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Kbtbd7 APN 14 79,666,052 (GRCm39) missense probably damaging 0.98
IGL01364:Kbtbd7 APN 14 79,665,486 (GRCm39) missense possibly damaging 0.82
R0973:Kbtbd7 UTSW 14 79,664,870 (GRCm39) missense possibly damaging 0.48
R0973:Kbtbd7 UTSW 14 79,664,870 (GRCm39) missense possibly damaging 0.48
R0974:Kbtbd7 UTSW 14 79,664,870 (GRCm39) missense possibly damaging 0.48
R2909:Kbtbd7 UTSW 14 79,665,922 (GRCm39) missense probably benign 0.16
R4731:Kbtbd7 UTSW 14 79,666,240 (GRCm39) makesense probably null
R4732:Kbtbd7 UTSW 14 79,666,240 (GRCm39) makesense probably null
R4733:Kbtbd7 UTSW 14 79,666,240 (GRCm39) makesense probably null
R4984:Kbtbd7 UTSW 14 79,664,602 (GRCm39) missense probably damaging 1.00
R5712:Kbtbd7 UTSW 14 79,666,205 (GRCm39) missense possibly damaging 0.86
R6699:Kbtbd7 UTSW 14 79,665,632 (GRCm39) missense probably benign 0.31
R7122:Kbtbd7 UTSW 14 79,665,757 (GRCm39) missense probably damaging 0.98
R7176:Kbtbd7 UTSW 14 79,665,194 (GRCm39) missense possibly damaging 0.77
R7457:Kbtbd7 UTSW 14 79,665,364 (GRCm39) frame shift probably null
R7875:Kbtbd7 UTSW 14 79,664,806 (GRCm39) missense probably benign 0.04
R8041:Kbtbd7 UTSW 14 79,666,144 (GRCm39) missense probably benign 0.43
R9435:Kbtbd7 UTSW 14 79,664,944 (GRCm39) missense probably benign 0.45
Predicted Primers PCR Primer
(F):5'- GGGCTACTGAGCAAGCCTATTGTG -3'
(R):5'- GCTGATGCCAACTATTTTGGGCTG -3'

Sequencing Primer
(F):5'- ACTGCCTGGACATTATTGAAGG -3'
(R):5'- GGGCTGGTTTATACACCCATAG -3'
Posted On 2014-01-29